Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry | Orphanet Journal of Rare Diseases | Full Text

Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry | Orphanet Journal of Rare Diseases | Full Text

Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry

Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with autosomal dominant inheritance. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are dete...

Authors:Rosario Sánchez-Martínez, Adriana Iriarte, José María Mora-Luján, José Luis Patier, Daniel López-Wolf, Ana Ojeda, Miguel Angel Torralba, María Coloma Juyol, Ricardo Gil, Sol Añón, Joel Salazar-Mendiguchía and Antoni Riera-Mestre

Citation:Orphanet Journal of Rare Diseases 2020 15:138

Content type:Research

 

Published on: 5 June 2020

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